P31L (p.Pro31Leu) variant of DOCK8 (Q8NF50)
P31L (p.Pro31Leu) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD 9-271665-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- AlphaMissense 0.08
- MetaLR 0.03
- MetaSVM -1.08
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available